37 citations
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September 2002 in “Acta pædiatrica” A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and budesonide, which improved after stopping the medications.
1 citations
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June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
20 citations
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July 1998 in “Annals of Clinical Biochemistry International Journal of Laboratory Medicine” A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
3 citations
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
1 citations
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April 2021 in “Annals of Otology Rhinology & Laryngology” Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
13 citations
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June 2012 in “Journal of Dermatological Case Reports” An 8-year-old boy with hair-pulling disorder had a bald patch that was confirmed not to be a fungal infection and was treated with therapy.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
August 2025 in “Skin Appendage Disorders” Young men with scalp psoriasis and hair loss fears may develop compulsive scalp behaviors needing attention.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
3 citations
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June 2013 in “Turkish Journal of Rheumatology” A 16-year-old boy with Castleman's disease and lupus was successfully treated and showed no recurrence.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
14 citations
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March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
Men with early-onset hair loss are less responsive to bromocriptine's heart and metabolism benefits.
21 citations
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December 1977 in “Journal of pediatric surgery” Individuals with male pseudohermaphroditism often do better raised as females with early surgery.
21 citations
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April 2010 in “Pediatrics in Review” Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
1 citations
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January 2013 in “Nasza Dermatologia Online” Vitamin B12 deficiency can cause reversible hair color loss in children.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
October 2010 in “Reproductive Biomedicine Online” Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
December 2002 in “International Journal of Cosmetic Surgery and Aesthetic Dermatology” The books are valuable resources for cosmetic surgery and dermatology professionals.
3 citations
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January 1988 in “PubMed” High prolactin levels can cause skin and hair symptoms similar to those caused by hormone imbalances.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
October 2024 in “Journal of the Endocrine Society” ACTH-dependent Cushing's syndrome linked to metastatic cervical cancer is rare and has high risks.